ORPHA:163631
Bile acid synthesis defect with cholestasis and malabsorption
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bile acid synthesis defect with cholestasis and malabsorption | |
| fr | Défaut de synthèse des acides biliaires avec cholestase et malabsorption | |
| de | Gallensäuresynthesedefekt mit Cholestase und Malabsorption | |
| es | Defecto en la síntesis de ácido biliar | |
| it | Difetto della sintesi degli acidi biliari | |
| nl | Defect van galzuursynthese met cholestase en malabsorptie | |
| pt | Defeito da síntese de ácidos biliares com colestase e má absorção | |
| pl | Zaburzenie syntezy kwasów tłuszczowych z cholestazą i złym wchłanianiem | |
| cs | Porucha syntézy žlučových kyselin s cholestázou a malabsorpcí | |
| uk | Дефект синтезу жовчних кислот з холестазом і мальабсорбцією | |
| zh | 胆汁酸合成缺陷伴胆汁淤积及吸收障碍 | |
| tr | Kolestaz ve malabsorpsiyon ile seyreden safra asidi sentez bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C52.11 | E | specific | validated |
| MONDO | 15581 | E | validated | |
| UMLS | C5681851 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79168Disorder of bile acid synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:284385Familial intrahepatic cholestasis
rare genetic diseases; rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163631
- This record as JSON: /data/d/163631.json